A 5-Year-Old Palestinian Bedouin Girl with Repeated Self-Induced Injuries to the Digits, a Diagnosis of Congenital Insensitivity to Pain, and Anhidrosis
| Autor: | Eyad M. Bintareef, Mohammed ALBashtawy, Omar M. Hanatleh, Samah K. Aburahma, Ali M. Ibnian, Abdullah Alkhawaldeh, Noran K. Kofahi |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
Pain Insensitivity Congenital media_common.quotation_subject Pain Context (language use) NTRK1 Protein Human Congenital insensitivity to pain with anhidrosis Hereditary sensory and autonomic neuropathy medicine Humans Receptor trkA Hereditary Sensory and Autonomic Neuropathies Anhidrosis Child media_common Hypohidrosis Daughter Wound dehiscence business.industry Articles General Medicine medicine.disease Arabs Surgery Child Preschool Orthopedic surgery Manipulation Orthopedic Female medicine.symptom business Congenital insensitivity to pain |
| Zdroj: | The American Journal of Case Reports |
| ISSN: | 1941-5923 |
| Popis: | Patient: Female, 5-year-old Final Diagnosis: Congenital insensitivity to pain and anhidrosis Symptoms: Infection • swelling Medication: — Clinical Procedure: Joint fixation Specialty: Neurology • Orthopedics and Traumatology • Pediatrics and Neonatology Objective: Unusual clinical course Background: Congenital insensitivity to pain with anhidrosis (CIPA), also referred to as hereditary sensory and autonomic neuropathy type IV, is a rare autosomal recessive disease caused by mutations in the NTRK1 gene. The inability to feel pain and temperature often leads to repeated severe and unintentional self-inflicted injuries; these can result in severe complications, as patients heal slowly from skin and bone injuries. This case report describes a 5-year-old Palestinian girl with self-inflicted injury to the digits, a dislocated distal inter-phalangeal joint of the left big toe, and a diagnosis of CIPA. Case Report: A 5-year-old girl, a daughter of related Palestinian Bedouin parents, presented with a chronic unhealed wound over the planter surface of the left foot. Painless repetitive minor traumata over the same area badly affected wound healing and this led to wound dehiscence and dislocation of the distal inter-phalangeal joint of the left big toe. Surgical fixation of the dislocated joint along with intravenous antibiotics and close follow-up resulted in eventual improvement and near complete wound healing despite the obviously slow healing process. The girl also displayed evidence of unintentional self-inflicted injury, which within the overall clinical context warranted a clinical suspicion of CIPA. This was confirmed by genetic testing for the presence of a homozygous frameshift mutation in the NTRK1 gene (c.1842_1843insT; p.Pro615Serfs*12). Conclusions: This case report shows that a physician should have a low threshold of suspicion to investigate for CIPA when managing children with multiple unintentional self-inflicted injuries, anhidrosis, and pain insensitivity, mainly through genetic testing to detect mutations in the NTRK1 gene. |
| Databáze: | OpenAIRE |
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